Therapeutic Potential of Afatinib for Cancers with ERBB2 (HER2) Transmembrane Domain Mutations G660D and V659E

作者: Hiromasa Yamamoto , Shinichi Toyooka , Takashi Ninomiya , Shigemi Matsumoto , Masashi Kanai

DOI: 10.1634/THEONCOLOGIST.2017-0345

关键词: Germline mutationLung cancerMedicineBone metastasisTransmembrane proteinAfatinibTransmembrane domainReceptor tyrosine kinaseViral OncogeneCancer research

摘要: We previously reported on a family with hereditary lung cancer, in which germline mutation the transmembrane domain (G660D) of avian erythroblastic leukemia viral oncogene homolog 2 (erb-b2 receptor tyrosine kinase 2) (ERBB2; human epidermal growth factor [HER2]) seemed to be responsible for cancer predisposition. Although few data are available treatment, anti-ERBB2 therapeutic agents may effective ERBB2-mutant cancers. The familial patient one authors' institutes developed bone metastasis enlarging tumors and was treated ERBB2 inhibitor afatinib. also encountered ampullary adenocarcinoma G660D S310F comutations another institute authors', revealed by comprehensive genomic profiling. This then afatinib achieved transitory response. searched mutations various types cancers PubMed, Cancer Genome Atlas (TCGA), Memorial Sloan Kettering-Integrated Mutation Profiling Actionable Targets (MSK-IMPACT) database. Besides our two cases, patients V659E were found via PubMed. Three potential TCGA. In addition, MSK-IMPACT allowed identification three additional urothelial carcinomas adenocarcinomas mutations. Our experience suggests that establishing database integrated information regarding clinical genome outcome recurrent but less common is essential implement precision oncology. Key points Rare targetable such as (TMD) can detected profiling.Afatinib (HER2) TMD mutations.In order oncology, it important establish genomes outcomes

参考文章(20)
Donavan T. Cheng, Talia N. Mitchell, Ahmet Zehir, Ronak H. Shah, Ryma Benayed, Aijazuddin Syed, Raghu Chandramohan, Zhen Yu Liu, Helen H. Won, Sasinya N. Scott, A. Rose Brannon, Catherine O'Reilly, Justyna Sadowska, Jacklyn Casanova, Angela Yannes, Jaclyn F. Hechtman, Jinjuan Yao, Wei Song, Dara S. Ross, Alifya Oultache, Snjezana Dogan, Laetitia Borsu, Meera Hameed, Khedoudja Nafa, Maria E. Arcila, Marc Ladanyi, Michael F. Berger, Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets (MSK-IMPACT): A Hybridization Capture-Based Next-Generation Sequencing Clinical Assay for Solid Tumor Molecular Oncology The Journal of Molecular Diagnostics. ,vol. 17, pp. 251- 264 ,(2015) , 10.1016/J.JMOLDX.2014.12.006
Adam Siepel, Katherine S. Pollard, David Haussler, New Methods for Detecting Lineage-Specific Selection Lecture Notes in Computer Science. pp. 190- 205 ,(2006) , 10.1007/11732990_17
Prateek Kumar, Steven Henikoff, Pauline C Ng, Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nature Protocols. ,vol. 4, pp. 1073- 1081 ,(2009) , 10.1038/NPROT.2009.86
Michail P. Kirpichnikov, Roman G. Efremov, Alexander S. Arseniev, Eduard V. Bocharov, Konstantin S. Mineev, Pavel E. Volynsky, Yaroslav S. Ermolyuk, Elena N. Tkach, Alexander G. Sobol, Vladimir V. Chupin, Spatial structure of the dimeric transmembrane domain of the growth factor receptor ErbB2 presumably corresponding to the receptor active state. Journal of Biological Chemistry. ,vol. 283, pp. 6950- 6956 ,(2008) , 10.1074/JBC.M709202200
H. Greulich, B. Kaplan, P. Mertins, T.-H. Chen, K. E. Tanaka, C.-H. Yun, X. Zhang, S.-H. Lee, J. Cho, L. Ambrogio, R. Liao, M. Imielinski, S. Banerji, A. H. Berger, M. S. Lawrence, J. Zhang, N. H. Pho, S. R. Walker, W. Winckler, G. Getz, D. Frank, W. C. Hahn, M. J. Eck, D. R. Mani, J. D. Jaffe, S. A. Carr, K.-K. Wong, M. Meyerson, Functional analysis of receptor tyrosine kinase mutations in lung cancer identifies oncogenic extracellular domain mutations of ERBB2 Proceedings of the National Academy of Sciences of the United States of America. ,vol. 109, pp. 14476- 14481 ,(2012) , 10.1073/PNAS.1203201109
Ivan A Adzhubei, Steffen Schmidt, Leonid Peshkin, Vasily E Ramensky, Anna Gerasimova, Peer Bork, Alexey S Kondrashov, Shamil R Sunyaev, A method and server for predicting damaging missense mutations Nature Methods. ,vol. 7, pp. 248- 249 ,(2010) , 10.1038/NMETH0410-248
Jana Marie Schwarz, Christian Rödelsperger, Markus Schuelke, Dominik Seelow, MutationTaster evaluates disease-causing potential of sequence alterations Nature Methods. ,vol. 7, pp. 575- 576 ,(2010) , 10.1038/NMETH0810-575
Shizhen Emily Wang, Archana Narasanna, Marianela Perez-Torres, Bin Xiang, Frederick Y. Wu, Seungchan Yang, Graham Carpenter, Adi F. Gazdar, Senthil K. Muthuswamy, Carlos L. Arteaga, HER2 kinase domain mutation results in constitutive phosphorylation and activation of HER2 and EGFR and resistance to EGFR tyrosine kinase inhibitors. Cancer Cell. ,vol. 10, pp. 25- 38 ,(2006) , 10.1016/J.CCR.2006.05.023
Konstantin S. Mineev, Eduard V. Bocharov, Yulia E. Pustovalova, Olga V. Bocharova, Vladimir V. Chupin, Alexander S. Arseniev, Spatial Structure of the Transmembrane Domain Heterodimer of ErbB1 and ErbB2 Receptor Tyrosine Kinases Journal of Molecular Biology. ,vol. 400, pp. 231- 243 ,(2010) , 10.1016/J.JMB.2010.05.016
Maria E. Arcila, Jamie E. Chaft, Khedoudja Nafa, Sinchita Roy-Chowdhuri, Christopher Lau, Michael Zaidinski, Paul K. Paik, Maureen F. Zakowski, Mark G. Kris, Marc Ladanyi, Prevalence, clinicopathologic associations, and molecular spectrum of ERBB2 (HER2) tyrosine kinase mutations in lung adenocarcinomas. Clinical Cancer Research. ,vol. 18, pp. 4910- 4918 ,(2012) , 10.1158/1078-0432.CCR-12-0912